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dbVar

Database of genomic structural variation

nsv7011713

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:178,768

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 1253 SVs from 75 studies. See in: genome view

Submitted genomic54,880,948-55,059,715

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7011713	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	54,880,948	55,059,715
nsv7011713	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004166865.1	Chr19\|NW_0 04166865.1	855,316	1,034,083

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18639596	duplication	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18639596	Submitted genomic		NC_000019.10:g.548 80948_55059715dup	GRCh38 (hg38)		NC_000019.10	Chr19	54,880,948	55,059,715
nssv18639596	Remapped	Perfect	NW_004166865.1:g.8 55316_1034083dup	GRCh37.p13	First Pass	NW_004166865.1	Chr19\|NW_0 04166865.1	855,316	1,034,083

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18639596	7e-06	2	273644

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